Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.56564200G>C , CM000685.2:g.56564200G>C | GRCh38 |
| NC_000023.10:g.56590633G>C , CM000685.1:g.56590633G>C | GRCh37 |
| NC_000023.9:g.56607358G>C | NCBI36 |
| NG_016249.1:g.5608G>C , LRG_665:g.5608G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013444.4:c.327G>C MANE Select | NP_038472.2:p.Gln109His |
| ENST00000338222.7:c.327G>C MANE Select | ENSP00000345195.5:p.Gln109His |
| NM_013444.3:c.327G>C , LRG_665t1:c.327G>C | NP_038472.2:p.Gln109His |
| ENST00000338222.6:c.327G>C | ENSP00000345195.5:p.Gln109His |
| XM_011530837.1:c.273+460G>C | XP_011529139.1:n.273+460G>C |